A few years ago, I read the philosopher Michael Sandel’s short book The Case Against Perfection, which at the time felt like a speculation on the distant future of genetic engineering. Sandel argues that as we develop technologies enabling us to edit and select the genetics of living organisms (most critically, humans), we would be foolish to discard the virtues of chance. Specifically, the fact that we can’t choose our family members and must love them — flaws, and all — is a fountain of tolerance and compassion for humanity at large. We learn in a local way a more general lesson: the universe gives rise to diversity, and embracing that diversity is the hallmark of a civilized society.
This argument resonated with me and, since reading it, has tempered my evolving interest in genomics. While I vigorously support efforts to engineer the non-human natural world to suit our needs — more nutritious and cost-effective foods, transgenic bacteria to manufacture our chemicals, and so forth — when it comes to reproduction, I take seriously concerns about a “new eugenics,” or the risk of stratifying humanity genetically. After all, economic inequality is so significant that the power to engineer humans will predictably reach the global elite before others; and with that power comes the possibility of an upper class not distinguished just by its resources, but also by its genetic characteristics. Terrifying stuff!
Healthy children free of disease save insurers and, by extension, society, enormous cost burdens.
Nevertheless, these matters were purely theoretical for me until this year, when my wife, Liz, and I found ourselves face to face with the future. We learned that Liz carries a mutation in her MLH1 gene that predisposes her to multiple cancers, a condition known as Lynch syndrome. The good news about this discovery is that Liz can now almost certainly safeguard her health. The bad news is that Liz can achieve this only by enduring relentless invasive medical screening: annual colonoscopies, frequent endoscopies, a preventive hysterectomy and oophorectomy after childbearing, and more. Perhaps most challenging, Liz and I have faced the moral dilemma that any child we conceive naturally will have a 50/50 chance of inheriting the Lynch syndrome variant.
Luckily, in vitro fertilization (IVF) and preimplantation genetic diagnosis (PGD) technologies will allow us to avoid this game of Russian roulette. By harvesting eggs and fertilizing them in vitro, we will have the ability to test blastocysts and select for implantation ones without Liz’s mutation. In doing so, we will ensure that the mutation ends with Liz. While our future children will remain subject to any number of other genetic fortunes (or misfortunes), they will not have Lynch syndrome, and this will be our gift to them.
Unfortunately, IVF and PGD are expensive gifts to give. Each cycle of harvesting and fertilizing eggs can run upward of $15,000. And implantation costs several thousand dollars more. We will bear these expenses if we must, but our view is that insurance companies — including Medicare and Medicaid — ought to cover these procedures for patients with serious genetic illnesses like Lynch syndrome. Unfortunately, our insurer in California, Blue Shield, has denied us this coverage.
Blue Shield justifies its denial by claiming that IVF is a treatment for infertility, which is not a covered medical condition in plans like ours. Unfortunately, this view is terribly outdated and fails to recognize that IVF and PGD are essential, medically necessary aspects of treating patients with heritable genetic illnesses. To deny IVF and PGD presents patients hoping to have biological children with an awful three-way choice: 1) roll the dice and risk passing on a disease; 2) pay out of pocket for these expensive procedures; or 3) conceive naturally and then, using amniocentesis, test growing fetuses for disease and terminate pregnancies if they are positive.
Change will only come from the broad advocacy of physicians, policymakers, ethicists, and interested laypeople who understand the unprecedented genetic crossroads at which our species finds itself.
Not only is the insurers’ position morally dubious, it is also financially self-sabotaging. Healthy children free of disease save insurers and, by extension, society, enormous cost burdens. We should all wish for all children to be as healthy as possible, and our payment models in health care ought to support this obvious preference. Sadly, insurers have short time horizons because patients switch insurance providers every few years, on average. The implications of this structural reality imperil not just the health of our next generation, but also many prospective targets of precision and preventive medicine.
Insurers are currently biased against almost all preventive diagnostic testing beyond the standard blood panels done at annual physicals. As Robert Green, a medical geneticist at Harvard, has lamented to me, even patients with long-term undiagnosed diseases struggle to convince insurers to cover the costs of screening them for genetic disease, though it is clearly worthwhile to do so.
I don’t believe that insurers, providers, or the government are evil, faceless institutions mercilessly standing in the way of a more healthy future. Like all institutions, they are populated by people, and these people have a rare opportunity to reorient their organizations toward a more intelligent paradigm.
Liz and I are currently appealing Blue Shield’s decision to the California Department of Managed Health Care, but even if it approves our request, this will not change the law governing insurers, nor will it prevent them from denying the next at-risk couple’s medical and moral needs.
Change will only come from the broad advocacy of physicians, policymakers, ethicists, and interested laypeople who understand the unprecedented genetic crossroads at which our species finds itself. If you are reading Genome magazine, you are a part of this vanguard, and I hope that you’ll join the conversation.